A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896358



Internal ID171724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224097817..224102763hg38UCSC Ensembl
chr1:224285519..224290465hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg384947
hg194947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437978
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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